Thanks for taking the time to visit my JustGiving page.

As most of you know I do lots of work for various charities - which often include baking and doing some sort of nuts sporting event.

Having learnt about Herbie and Lily (their story is best explained by their mother Emily - see below), I am passionate about raising funds to help raise awareness and support PID.  

My page is part of a team - 4 Non Blondes (yep whilst you may think I am blonde it all comes from a bottle!).  We want to raise lots of money and will be doing various events in the run up to our ride to help boost funds.

Please, please, please donate and help our cause.

Herbie's and Lily's story 

...shared by Emily, Mum to Herbie & Lily, who both have a PID

How we got here...our PID journey began a year after Herbie was born.  He had a perfect birth and was a well and happy baby until just before his first birthday when he seemed to get one thing after another.  Sickness bug, colds, you name it he picked it up. Being the youngest of four, two sisters (twins) in primary school and a 2 year-old brother and a mother who was a primary school teacher we just assumed that he was being bombarded by things we all picked up.  At this point I don’t think we had really registered how each time he got things they took a little longer to ‘get over’.

At 13 months after a couple of weeks of what seemed like a virus and after numerous trips to the GP we were advised by a different GP at the surgery to take him to the local hospital as something was not right but he couldn’t put his finger on it.  Neither could the hospital and after tests and observations for most of the day we were sent home. Herbie was back in the hospital in less than twelve hours, he was taken by ambulance fighting for his life after contracting bacterial meningitis.

It was a rocky three weeks spent in Paediatric High Dependency Unit and on the ward but he made a full recovery and after a few follow up appointments we were to be discharged after a year.  However, despite a pretty good year he ended up in hospital again just before the anniversary of his meningitis episode.  A consultant from the Infectious Diseases team at the Children’s Hospital in Oxford suggested that although this could just be coincidental he was concerned there may be an immune deficiency and wanted to investigate.  At this point I had no idea what this all meant and actually felt...oddly relieved!

Having a name for Herbie’s rare condition...over the next couple of years our brave baby underwent various tests and finally we had a diagnosis of NEMO syndrome; a very rare, X-linked immune system deficiency.  Usually passed to boys only, via their mothers and usually making those with it sick from birth.  Herbie didn’t quite fit that pattern as he had long periods of being well but we later discovered his NEMO mutation was one not yet cited in any research/documentation.  We were told they didn’t feel the need to start any immunoglobulin replacement therapy but that he may need it one day and he may also need a bone marrow transplant in the future.  At the age of 4 he started subcutaneous immunoglobulin after it was clear that most of his vaccines were not working.  He was amazing as usual, taking it all in his stride, charming the nurses and consultants and making it easier on mummy and daddy!

A twist in the tale...last summer with Herbie doing brilliantly and life finally settling down we took one of our twins to the GP after she seemed to be struggling with weight gain and her breathing.  We had been told she had asthma a few months before but we realised that inhalers seemed to be doing very little for her.  She had had a couple of days of high temperatures and so the GP sent her for a chest x-ray.  The results were devastating…severe lung disease…in a ten year old.  On arrival at the hospital they asked about other family members, I explained about Herbie but told them it was X-linked so a boy thing. Then our immunologist appeared.  The rest is a blur, turns out she also has the NEMO mutation and I have since learnt that so do I and so does my mum.  It appears that something has triggered Lily’s ‘good X chromosome’ to switch off and allow the ‘dodgy one’ to switch on.  Oxford & Great Ormond Street Hospital are still trying to work out the ins and outs.  Lily had a mycobacterial infection and a year on is still on a plethora of medicines including the immunoglobulin.  Herbie contracted this infection later in the year despite vigilance by the hospital with scans etc and is awaiting a Bone Marrow Transplant in May which we hope may cure the PID completely.

How do we cope...I wish I could give a straightforward answer to this. Sometimes we wonder how we all get through this but we always remain positive. We try to make sure the children understand what they need to do and why. They know that their immune systems are different; they understand that bacteria is their enemy. Most of all they know that we are all trying to make their lives as normal as possible so that they can do the things they want to do. Sometimes we have to say no to certain things like parties when we know others are taking children who are not 100% well or recovered from an illness and this is hard. I don’t think people around them would know that they had a PID if it wasn’t for the recent serious illnesses and so they often don’t realise that they might be putting our children at risk. They take the medicines, appointments and hospitalisation in their stride and we are amazed by their strength and ability to laugh and smile their way through the toughest of times. We are so proud of the way in which they cope on a daily basis.


My advice to other parents...

Make sure that the children feel involved in processes that happening to them. Ours plan their infusion sessions and they decide on the day (within limits) and timing and as they get older they take on more responsibility. Lily will remove her neria needles and help with the packing up. Herbie is younger but can still help. All four children carry antibacterial gel at all times, as do I and we are very particular about food being eaten before use by dates!

If you have other children without a PID it can be hard on them. Remember to try to include them wherever possible, make them feel like they are helping. Inform wider family of what PID’s are and keep them informed on the best ways to help. If you don’t tell them what care they need to take with your children and why they need to do it you can’t expect them to understand your actions.

If you unknowingly passed a genetic mutation that caused the PID don’t beat yourself up, it’s easier said than done I know but it is wasted energy and emotion that gets you nowhere positive.

Finally, even though hospital meetings can be scary, try to embrace them. Our experience is that everything they do is to help make your lives easier, if it’s not, be honest and talk to them.